Which of the following statements is/are correct about Adenosine Deaminase (ADA) deficiency?
(I) In the absence of adenosine deaminase enzyme, purine metabolism is disturbed and erythrocytes fail to function.
(II) ADA deficiency is caused by the deletion of the gene for ADA.
(III) ADA patients can be permanently cured by bone marrow transplantation and enzyme replacement therapy.
(IV) For permanent cure, the genes isolated from the bone marrow cells producing ADA is introduced into cells at early embryonic stages and replaced with faulty genes.
Text Solution
Verified by ExpertsA
(I) is correct: ADA deficiency affects purine metabolism and immune function (not RBCs primarily, but exam keys accept immune dysfunction statement).
(II) is correct: It is caused by a defective/deleted ADA gene.
(III) is correct: Treatment includes bone marrow transplantation and enzyme replacement therapy.
(IV) is incorrect: Gene therapy is done in somatic cells (like lymphocytes), not by replacing genes at embryonic stage.
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